Mutation update for the ACTN2 gene

Johanna Ranta-aho; Montse Olive; Marie Vandroux; Giorgia Roticiani; Cristina Dominguez; Mridul Johari; Annalaura Torella; Johann Boehm; Janina Turon; Vincenzo Nigro; Peter Hackman; Jocelyn Laporte; Bjarne Udd; Marco Savarese

doi:10.1002/humu.24470

Mutation update for the ACTN2 gene

Johanna Ranta-aho, Montse Olive, Marie Vandroux, Giorgia Roticiani, Cristina Dominguez, Mridul Johari, Annalaura Torella, Johann Boehm, Janina Turon, Vincenzo Nigro, Peter Hackman, Jocelyn Laporte, Bjarne Udd, Marco Savarese

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Tidskrift	Human mutation
Volym	43
Nummer	12
Sidor (från-till)	1745-1756
Antal sidor	12
ISSN	1059-7794
DOI	https://doi.org/10.1002/humu.24470
Status	Publicerad - dec. 2022
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

3111 Biomedicinska vetenskaper

Åtkomst av dokument

10.1002/humu.24470

Human Mutation - 2022 - Ranta‐aho - Mutation update for the ACTN2 geneSlutlig publicerad version, 1,23 MBLicens: CC BY

Citera det här

@article{caf491552d894e84aeee31c6804db4c3,

title = "Mutation update for the ACTN2 gene",

keywords = "ACTN2, alpha-actinin-2, cardiomyopathy, congenital myopathy, distal myopathy, HYPERTROPHIC CARDIOMYOPATHY, DILATED CARDIOMYOPATHY, ALPHA-ACTININ, ALPHA-ACTININ-3, 3111 Biomedicine",

author = "Johanna Ranta-aho and Montse Olive and Marie Vandroux and Giorgia Roticiani and Cristina Dominguez and Mridul Johari and Annalaura Torella and Johann Boehm and Janina Turon and Vincenzo Nigro and Peter Hackman and Jocelyn Laporte and Bjarne Udd and Marco Savarese",

year = "2022",

month = dec,

doi = "10.1002/humu.24470",

language = "English",

volume = "43",

pages = "1745--1756",

journal = "Human mutation",

issn = "1059-7794",

publisher = "John Wiley and Sons Inc.",

number = "12",

}

TY - JOUR

T1 - Mutation update for the ACTN2 gene

AU - Ranta-aho, Johanna

AU - Olive, Montse

AU - Vandroux, Marie

AU - Roticiani, Giorgia

AU - Dominguez, Cristina

AU - Johari, Mridul

AU - Torella, Annalaura

AU - Boehm, Johann

AU - Turon, Janina

AU - Nigro, Vincenzo

AU - Hackman, Peter

AU - Laporte, Jocelyn

AU - Udd, Bjarne

AU - Savarese, Marco

PY - 2022/12

Y1 - 2022/12

KW - ACTN2

KW - alpha-actinin-2

KW - cardiomyopathy

KW - congenital myopathy

KW - distal myopathy

KW - HYPERTROPHIC CARDIOMYOPATHY

KW - DILATED CARDIOMYOPATHY

KW - ALPHA-ACTININ

KW - ALPHA-ACTININ-3

KW - 3111 Biomedicine

U2 - 10.1002/humu.24470

DO - 10.1002/humu.24470

M3 - Article

SN - 1059-7794

VL - 43

SP - 1745

EP - 1756

JO - Human mutation

JF - Human mutation

IS - 12

ER -